Canonical Allele Identifier: CA10579836

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32396946C>G , CM000675.2:g.32396946C>G	GRCh38
NC_000013.10:g.32971083C>G , CM000675.1:g.32971083C>G	GRCh37
NC_000013.9:g.31869083C>G	NCBI36
NG_012772.3:g.86467C>G , LRG_293:g.86467C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9550C>G MANE Select	NP_000050.3:p.Leu3184Val
ENST00000380152.8:c.9550C>G MANE Select	ENSP00000369497.3:p.Leu3184Val
NM_000059.3:c.9550C>G , LRG_293t1:c.9550C>G	NP_000050.2:p.Leu3184Val
ENST00000380152.7:c.9550C>G	ENSP00000369497.3:p.Leu3184Val
ENST00000470094.1:c.633C>G
ENST00000470094.2:c.*73C>G	ENSP00000434898.2:n.*73C>G
ENST00000528762.2:c.*917C>G	ENSP00000433168.2:n.*917C>G
ENST00000530893.7:c.9181C>G	ENSP00000499438.2:p.Leu3061Val
ENST00000533776.1:n.138C>G
ENST00000544455.5:c.9550C>G	ENSP00000439902.1:p.Leu3184Val
ENST00000544455.6:c.9550C>G	ENSP00000439902.1:p.Leu3184Val
ENST00000614259.2:c.9558C>G	ENSP00000506251.1:n.9558C>G
ENST00000665585.1:c.2428C>G
ENST00000665585.2:c.*1112C>G	ENSP00000499570.2:n.*1112C>G
ENST00000680887.1:c.9550C>G	ENSP00000505508.1:p.Leu3184Val
ENST00000700202.1:c.1966C>G	ENSP00000514856.1:p.Leu656Val
ENST00000700202.2:c.9499C>G	ENSP00000514856.2:p.Leu3167Val
ENST00000700203.1:n.1677C>G
XM_011535203.1:c.9550C>G	XP_011533505.1:p.Leu3184Val
XM_011535204.1:c.9454C>G	XP_011533506.1:p.Leu3152Val